Invaluable

Note: This piece has been entered in the Patients Have Power Writing Contest run by Clara Health designed to raise awareness about clinical trials. I am passionate about this cause and hope it will help raise much needed awareness about the power of breakthrough research.

About three years ago, I read a news article that I thought had changed my life. A new gene therapy clinical trial was being developed for my disease, Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B). I was on cloud nine. For the first time since I started experiencing muscle weakness in 2008, I felt like there was a cure on the horizon.

Reality soon set in.

Two years later, I checked in on the progress of the clinical trial – a pilot Phase 1 trial – and saw that it was still struggling to meet its recruitment goal of three patients, even though it had been open for almost a year. I groaned. I sighed. I welled up with frustration. What had once seemed like a surefire path to a cure now seemed elusive, yet another false hope on my patient journey. Reality had sunk in – this drug discovery stuff is hard.

Despite the setback, there is no denying we are in an unprecedented time in the history of medicine. Never before has so much innovation and scientific progress been made in such a short period of time. CRISPR, gene therapy, exon skipping, immunotherapy – anyone plugged into the world of drug development is familiar with these groundbreaking advances, and they have all come about in the last few years. For someone like myself living with an adult-onset form of muscular dystrophy that has no treatment, on the whole I have never been more optimistic. I believe, in my heart of hearts, that in a lab somewhere in the world, maybe in a petri dish or test tube, lies the beginnings of what will one day be a cure for my disease.

However, as I’ve learned the hard way, developing an effective treatment in the lab isn’t the end of the story. Conducting three successful phases of clinical trials is another challenge entirely, especially for rare diseases. As fate would have it, I have one such rare disease. It is known by several names – LGMD2B, Miyoshi Myopathy, distal muscular dystrophy, dysferlinopathy – but whatever you choose to call it, there aren’t many of us around that have it. There is no consensus estimate of the prevalence, but it is commonly understood to be less than five per million. We are a needle in the population haystack.

With such a small patient population, multiple challenges arise in developing effective therapies. We could talk all day about how rare disease research is underfunded, but even then, it is only one piece of the puzzle. Even with all the funding in the world, you still need patients to fill clinical trials. You could have the most effective drug in the world, but without patients to test it on, the drug will never hit the market.

For LGMD2B, every diagnosed patient is invaluable. Clinical trials for this disease, as I learned the hard way, are going to have to be smaller than usual given the small population size. And many of these trials either will have stringent criteria that will disqualify many participants, or it will be a drug that will only target a specific genetic defect.

One of my greatest frustrations is knowing that there are patients out there in the world who have this disease but who have, for whatever reason, either not been diagnosed or choose not to get involved with the patient community. The diagnostic challenge is straightforward. Better diagnostics and greater access to diagnostic technology will help more people know on a genetic level exactly what is wrong. The second point, however, is anything but straightforward.

This is not an indictment against those who choose not to get involved, rather it is an acknowledgement that each person with this disease is of tremendous value, value that they don’t always see in themselves. Each person can do so much for our community. They can contribute their data, get their diagnosis genetically confirmed, participate in clinical outcome studies and engage with the community on forums and in Facebook groups. When clinical trials are ready to recruit, they will be well-informed and ready to go.

Having more genetically-confirmed patients also means that drug companies will be more interested in the disease, especially if the patient community is well-organized and there’s compelling observational data to base clinical trial outcome measures off of. For LGMD2B, thanks to the efforts of the Jain Foundation, our community has a lot of compelling data from our Clinical Outcome Study (COS), which I have participated in for more than five years. But even with the backing of a foundation, a passionate patient community, and great observational data, we are in desperate need of more patients.

I am not good at sitting still. If I dwell on my disease and how it has changed my life, I get anxious, which is why I try to channel my thoughts towards productive pursuits. I often think about how to reach out to those who either have a diagnosis and choose not to get involved with the community, or who have a general diagnosis of a “muscle disease”, but who have not actively pursued finding a definitive answer.

Sometimes it frustrates me, but I often have to remind myself that I was once in their shoes.

It took me three years before I went from Googling “Jain Foundation” and “Muscular Dystrophy Association” to making contact with these organizations. It took until my first fall, at the ripe age of 24, when I realized that I couldn’t stick my head in the sand anymore and that I needed to confront this disease head-on.

Even then, however, becoming an engaged patient in the community was an evolution more than a conscious decision. I had to get comfortable with it. For a long time, I teetered on the edge of wallowing in denial and shutting myself off from the community. There were days where I didn’t want to be a patient anymore and tried vainly to live life the way I used to. My body soon put an end to that. Although I am an advocate today, it took many years to get to this point. It took a lot of soul-searching and lost nights of sleep.

Above all, it took me many years to fully understand the tremendous value of each and every patient. We are valuable on two levels. First, we are all living the same shared life experience, emotionally and physically. Only patients can truly understand what our fellow patients are going through. To be able to draw on our experiences and perspectives to build up one another when we are down is incredibly important. On a second level – and I’ll admit there is a little selfishness here – we are valuable because we have a shared duty to one another to stay informed about clinical trials and participate if we are able and willing. I keep both objectives in mind when I communicate with other patients. I do my best to offer support and keep them up to date on the latest news and research that I come across.

I especially find myself drawing on this perspective when I interact with those who reach out to me through this blog, who are trying to figure out the next step on their journey. I’ve heard from patients who think they might have 2B but aren’t sure, or know they have it but are stuck debating whether or not they want to accept what it means just yet, if at all.

As I read their emails and learn about their personal stories, I find myself nodding constantly. Yup, I felt the same way when I fell. Or, the same thing happened to me. When I respond back, I make a point to affirm their feelings and tell them that at one time I too asked the same questions about my disease, and on a grander scale, about life. But I also make a point to let them know of the resources available should they choose to become an engaged patient, and the benefits to both themselves and the rest of the community if they participate. At the end of the day, however, it is their choice, and I respect their decision.

I wish I could say that I was able to convince every patient I encountered to proceed with getting their diagnosis or become involved with the 2B community. Unfortunately, in several instances, I haven’t been successful. I think about them constantly, the ones who slipped through the cracks.

The truth is, there’s simply no universal message that will convince every patient to become proactive. I, as much as anyone, would know. The patient experience isn’t predictable or linear. Everyone deals with a diagnosis in their own way.

But now that I have lived this bumpy, messy patient experience for ten years, now that I am able to comprehend just how important each and every 2B patient is, I won’t give up trying to reach anyone who is on the fence. I won’t give up telling them that they are valued, that there is a community out there waiting to embrace them and help them through the emotional struggles to come. A community who, quite frankly, needs them.

Because although they may not be one in a million in the way they had hoped, to a few thousand people around the world, they are worth their weight in gold.

As always, well written. I could really relate given my adult form of muscular dystrophy to: “I am not good at sitting still. If I dwell on my disease and how it has changed my life, I get anxious, which is why I try to channel my thoughts towards productive pursuits.” Good luck with the contest. You’ve got my vote.

Great piece of writing as always Chris. I too find myself nodding my head, and saying, “Yes. Yup! That’s right. Me too.” All the stages you describe resonate with me, including the desire, when I was younger, to be left alone at times by the medical community and just be a regular guy. And I get that and respect it too. But times are changing, and with new drug candidates in clinical trials, we really do need everyone we can find to join patient registries (in our case with the Jain Foundation in particular). And we need PCPs and neurological specialists to be more educated and specific with their diagnoses too. With genome screening, there’s no excuse to be misdiagnosed with the wrong disease these days, or shrugged off as having “M.D.” without more specificity. Thanks for doing all you do!

You are providing an invaluable service to all members of the 2B community regardless of whether they have chosen to participate in clinical trials or not. Your writing combines informed authority with sensitivity in a way that can only serve to encourage others to participate in the cause.

Congrats on your first place win in the Clara Health Patients Have Power Writing Contest, Chris! I, too, have been disappointed in an exam room when I learned that the trial criteria were too strict and I was excluded from participating. It’s extremely frustrating.